E92K (p.Glu92Lys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
E92K (p.Glu92Lys) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E92K (p.Glu92Lys) variant details
- p.Glu92Lys
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64964
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.21
- ESM-1b 0.93
- AlphaMissense 0.88
- MetaLR 0.14
- MetaSVM -0.92
- CADD 25.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available